Renalnext® PATIENT GUIDE

RenalNext® PATIENT GUIDE

A Guide To Genetic Testing For Hereditary Kidney Cancer Understanding The Basics

Risk factors for developing kidney cancer include cigarette smoking, obesity, chronic high blood pressure, and a family history of kidney cancer

cancer falls into 1 of 3 categories

familial cancer A pattern of the same or related types of cancer within a family that may be due to genes and/or other shared factors, such as environment and lifestyle

hereditary cancer A pattern of the same or related types of cancer within a family due to inherited gene changes (called mutations), that can be passed from parent to child

sporadic cancer Cancers that occur by chance in one or two family members that are not due to an inherited gene mutation. Approximately 80% of all cancers are sporadic. Kidney cancer occurs in about 1 in 63 people in the U.S.

About half of the people diagnosed with 66 YEARS kidney cancer are OR OLDER

about hereditary cancer

Many people have a family People who have these gene history of cancer, but only mutations are born with 5-10% of kidney cancer is them – they do not develop hereditary. over time.

People with a higher chance of Learning if you have an developing cancer may need inherited mutation can help screening, like ultrasounds or you know more about your MRIs, that start at younger cancer risks. ages, and occur more often. Should You Have Genetic Testing? if you answer “yes” to any of the questions below, hereditary kidney cancer genetic testing may be something for you and/or your family members to consider.

Have you/your family members* been diagnosed with 1 kidney cancer at a young age (<46 years old)?

Have you/your family members* been diagnosed with more 2 than one cancer, like 2 kidney cancers or kidney and thyroid cancer?

Have 2 or more people on the same side of your family had 3 kidney cancer?

Have 3 or more people on the same side of your family had 4 kidney, neuroendocrine tumors, and/or other cancers?

Have any of your family members* been found to have a 5 cancer gene mutation?

Your healthcare provider may identify other reasons why you could consider genetic testing. *”Family members” refers to blood relatives, such as brothers/sisters/parents/grandparents/ aunts/uncles/cousins Genes and Associated Cancers

RenalNext includes 20 genes that are linked to an increased lifetime risk for one or more cancers including kidney cancer. The check marks below indicate the associated cancer types for each gene.

gene(s) kidney breast ovarian colorectal uterine pancreatic prostate stomach endocrine* brain melanoma other BAP1 ü ü ü

CHEK2 ü ü ü ü

FH ü ü ü

FLCN ü

MET ü

MITF ü ü MLH1, MSH2, MSH6, ü ü ü ü ü ü ü ü ü PMS2, EPCAM PTEN ü ü ü ü ü ü ü SDHA, SDHB, SDHC, SDHD ü ü TP53 ü ü ü ü ü ü ü ü ü ü ü ü

TSC1, TSC2 ü ü ü

VHL ü ü ü ü

* Endocrine indicates at least one of the following: paraganglioma, pheochromocytoma, thyroid cancer, carcinoid tumors, pancreatic neuroendocrine tumors, and/or adrenal tumors How Genetic Testing Can Impact You and Your Family

for you:

Your test results may help your healthcare provider fine-tune your cancer screening plan, including the type, timing (age) of your initial screening, and its frequency.

Examples of cancer screening include mammogram, breast MRI, colonoscopy, prostate exam, dermatology (skin) exam, or other screenings indicated for your specific cancer risk.

Based on your results, your healthcare provider may review possible cancer prevention options with you, such as preventive, or prophylactic, surgery that can reduce the risk for certain cancers.

Examples include prophylactic mastectomy (removing one or both breasts before a cancer occurs) or prophylactic oophorectomy (removing the ovaries and Fallopian tubes before a cancer occurs)

Your doctor can also identify and discuss other personalized medical management options that might be appropriate based on your genetic test results. ambry genetics offers no-cost testing to close relatives This is available for the specific genetic mutation identified in the first family member tested at Ambry within 90 days of the original report date.

for your family members:

If you test positive for a genetic mutation, your close family members (like your parents, brothers, sisters and children) have a 50/50 random chance of also having the same mutation.

Has genetic mutation

No mutation

• Men and women have the same chance of inheriting a mutation, but their chance of developing cancer may be different. Possible Genetic Test Results

+ positive

A mutation was found in at least one of your genes tested Detection of a cancer-related gene mutation could explain that your cancer diagnosis is hereditary or be a warning that you are at increased risk compared to others. Based on your results, genetic testing for certain family members may be recommended.

negative

No genetic mutations were found in any of your genes tested While your genetic test results were negative, personal and family history may also be a strong indicator of cancer risk(s) and may inform your medical management. Talk to your healthcare provider to find out if genetic testing should be considered for your family members.

? variant of unknown significance (vus)

At least one genetic change was found, but it is unclear if this change causes an increased risk for cancer While your genetic test results were inconclusive and do not change your medical management, personal and family history may also be a strong indicator of cancer risk(s) and may inform your care. Talk to your healthcare provider to find out if genetic testing should be considered for your family members.

It is possible to have a combination of positive and VUS results, since multiple genes are tested. Resources For You

Ambry Patient Education Genetic Information Website Nondiscrimination Act ambrygen.com/patient ginahelp.org

American Cancer Society National Cancer Institute cancer.org cancer. gov

American Society of Clinical Kidney Cancer Oncology Association cancer.net kidneycancer.org

find a genetic counselor

National Society of Genetic Canadian Association of Counselors Genetic Counsellors nsgc.org cagc-accg.ca Frequently Asked Questions

1 how is genetic testing performed and how long does it take?

Genetic testing requires a blood or saliva sample, which is collected using a special kit that is shipped overnight to Ambry Genetics by your healthcare provider. The testing, which looks for mutations that cause an increased risk for cancer, takes less than three weeks to complete, and results are sent to your healthcare provider.

2 what will happen when my results are ready?

Your healthcare provider will receive your results; they will not be sent directly to you. Every healthcare provider may have a different method and time frame for reviewing your results with you, so it is important to discuss this process with them when your test is performed. Your healthcare provider will discuss recommended next steps based on your test results.

3 will my genetic test results affect my insurance coverage?

In the U.S., the Genetic Information Nondiscrimination Act (2008) prohibits discrimination by health insurance companies and employers, based on genetic information. Depending on where you live in the world, you may have different (or fewer) laws in this area. Visit ginahelp.org to learn more.

4 how will my test results be protected?

We are required by law to maintain the confidentiality of your protected health information in accordance with the Health Insurance Portability and Accountability Act (HIPAA). Visit HHS.gov to learn more. 5 should i tell my family members about my genetic test results?

It is important to share your results with your family members, because they may provide additional information about their own cancer risks and management options. If you feel unsure about how to approach the subject, your healthcare provider may be able to offer some advice.

6 will genetic testing be covered by my insurance?

Many insurance plans cover genetic testing, and Ambry Genetics is contracted with the majority of U.S. health plans. Your out-of-pocket cost may vary based on your individual plan. A team of dedicated specialists is available to help you get access to the genetic testing you need, and provide further details about our payment options. Please call or email our Billing department at +1.949.900.5795 or [email protected] with any questions. Visit ambrygen.com/patientbilling for more information.

7 what is an explanation of benefits (eob)?

Your insurance company sends you an EOB to explain any services paid on your behalf. You can contact us directly to speak with a Billing specialist with any questions or concerns about Ambry Genetics genetic testing that appears on your EOB. It is important to remember that insurance companies can take several weeks or even a couple of months to process claims.

still have questions? Talk to your healthcare provider or visit our website: ambrygen.com Elevating the Standard of Care™

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